Canonical Allele Identifier: CA397726101

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7128333G>C (hg19) ; chr17:g.7225014G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7225014G>C , CM000679.2:g.7225014G>C	GRCh38
NC_000017.10:g.7128333G>C , CM000679.1:g.7128333G>C	GRCh37
NC_000017.9:g.7069057G>C	NCBI36
NG_007975.1:g.10181G>C
NG_008391.2:g.37C>G
NG_033038.1:g.14531C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1885G>C MANE Select	ENSP00000349297.5:p.Glu629Gln
ENST00000322910.9:c.*1840G>C	ENSP00000325395.5:n.*1840G>C
ENST00000350303.9:c.1819G>C	ENSP00000344152.5:p.Glu607Gln
ENST00000356839.9:c.1885G>C	ENSP00000349297.5:p.Glu629Gln
ENST00000542255.6:c.764G>C
ENST00000543245.6:c.1954G>C	ENSP00000438689.2:p.Glu652Gln
ENST00000578033.1:n.310G>C
ENST00000578319.5:n.466G>C
ENST00000578711.1:n.1510G>C
ENST00000578809.5:n.457G>C
ENST00000579425.5:n.1001G>C
ENST00000583848.5:c.251G>C	ENSP00000466487.1:n.251G>C
ENST00000583850.5:n.656G>C
ENST00000583858.5:c.816G>C
NM_000018.3:c.1885G>C	NP_000009.1:p.Glu629Gln
NM_001033859.2:c.1819G>C	NP_001029031.1:p.Glu607Gln
NM_001270447.1:c.1954G>C	NP_001257376.1:p.Glu652Gln
NM_001270448.1:c.1657G>C	NP_001257377.1:p.Glu553Gln
XM_006721516.2:c.1906G>C	XP_006721579.2:p.Glu636Gln
XM_011523829.1:c.1804G>C	XP_011522131.1:p.Glu602Gln
XM_011523830.1:c.1783G>C	XP_011522132.1:p.Glu595Gln
XR_934021.1:n.1988G>C
XR_934022.1:n.1894G>C
XR_934023.1:n.1915G>C
XM_006721516.3:c.1906G>C	XP_006721579.2:p.Glu636Gln
XM_011523829.2:c.1804G>C	XP_011522131.1:p.Glu602Gln
XM_011523830.2:c.1783G>C	XP_011522132.1:p.Glu595Gln
XM_024450741.1:c.1873G>C	XP_024306509.1:p.Glu625Gln
XR_934021.2:n.1940G>C
XR_934022.2:n.1846G>C
XR_934023.2:n.1867G>C
NM_000018.4:c.1885G>C MANE Select	NP_000009.1:p.Glu629Gln
NM_001033859.3:c.1819G>C	NP_001029031.1:p.Glu607Gln
NM_001270447.2:c.1954G>C	NP_001257376.1:p.Glu652Gln
NM_001270448.2:c.1657G>C	NP_001257377.1:p.Glu553Gln